While the pathology associated with C9ALS/FTD is in many ways consistent with other forms of ALS/FTD, including the classical TDP-43 neuronal cytoplasmic inclusions, C9ALS/FTD cases are distinguished by the presence of specific ubiquitin and p62/sequestosome-1 positive, TDP-43 negative, neuronal cytoplasmic inclusions in the cerebellum, hippocampus and neocortex.16,35,36. This evidence concerns the gene TARDBP and amyotrophic lateral sclerosis.